Variant (rsID / SNP)

rs570821069

rs570821069 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MYLK. Location: chromosome 3, position 123,457,728. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MYLKConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Microsatellite
Chromosome / position: 3:123457728
Cytoband: 3q21.1
HGVS: NM_053025.4(MYLK):c.588+13_588+16del

Associated conditions / phenotypes

Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 7

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.